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Aliases for PRPH Gene

Aliases for PRPH Gene

  • Peripherin 2 3 5
  • PRPH1 3 4
  • NEF4 3 4
  • Neurofilament 4 (57kD) 3
  • Neurofilament 4 4

External Ids for PRPH Gene

Previous HGNC Symbols for PRPH Gene

  • NEF4

Previous GeneCards Identifiers for PRPH Gene

  • GC12M049560
  • GC12P049720
  • GC12P049405
  • GC12P047975
  • GC12P047973
  • GC12P049687
  • GC12P046719

Summaries for PRPH Gene

Entrez Gene Summary for PRPH Gene

  • This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRPH Gene

PRPH (Peripherin) is a Protein Coding gene. Diseases associated with PRPH include Macular Dystrophy, Patterned, 1 and Choriodal Dystrophy, Central Areolar 2. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Amyotrophic lateral sclerosis (ALS). GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT82.

UniProtKB/Swiss-Prot for PRPH Gene

  • Class-III neuronal intermediate filament protein.

Gene Wiki entry for PRPH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPH Gene

Genomics for PRPH Gene

Regulatory Elements for PRPH Gene

Enhancers for PRPH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRPH on UCSC Golden Path with GeneCards custom track

Genomic Location for PRPH Gene

Chromosome:
12
Start:
49,293,252 bp from pter
End:
49,298,698 bp from pter
Size:
5,447 bases
Orientation:
Plus strand

Genomic View for PRPH Gene

Genes around PRPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPH Gene

Proteins for PRPH Gene

  • Protein details for PRPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41219-PERI_HUMAN
    Recommended name:
    Peripherin
    Protein Accession:
    P41219
    Secondary Accessions:
    • Q8N577

    Protein attributes for PRPH Gene

    Size:
    470 amino acids
    Molecular mass:
    53651 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PRPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPH Gene

Proteomics data for PRPH Gene at MOPED

Post-translational modifications for PRPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRPH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRPH Gene

Domains & Families for PRPH Gene

Gene Families for PRPH Gene

Suggested Antigen Peptide Sequences for PRPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41219

UniProtKB/Swiss-Prot:

PERI_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with PRPH: view

Function for PRPH Gene

Molecular function for PRPH Gene

GENATLAS Biochemistry:
peripherin,neuronal,intermediate filament associated protein (IFAP,type III)
UniProtKB/Swiss-Prot Function:
Class-III neuronal intermediate filament protein.
genes like me logo Genes that share phenotypes with PRPH: view

Human Phenotype Ontology for PRPH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRPH Gene

MGI Knock Outs for PRPH:

Animal Model Products

miRNA for PRPH Gene

miRTarBase miRNAs that target PRPH

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PRPH Gene

Localization for PRPH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRPH Gene COMPARTMENTS Subcellular localization image for PRPH gene
Compartment Confidence
extracellular 5
cytoskeleton 4
cytosol 2
nucleus 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PRPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0045098 type III intermediate filament IEA --
genes like me logo Genes that share ontologies with PRPH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRPH Gene

Pathways & Interactions for PRPH Gene

genes like me logo Genes that share pathways with PRPH: view

Pathways by source for PRPH Gene

1 BioSystems pathway for PRPH Gene
1 KEGG pathway for PRPH Gene
1 GeneGo (Thomson Reuters) pathway for PRPH Gene

Gene Ontology (GO) - Biological Process for PRPH Gene

None

No data available for SIGNOR curated interactions for PRPH Gene

Drugs & Compounds for PRPH Gene

No Compound Related Data Available

Transcripts for PRPH Gene

Unigene Clusters for PRPH Gene

Peripherin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRPH Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10
SP1: - -
SP2: - -
SP3: -
SP4:

Relevant External Links for PRPH Gene

GeneLoc Exon Structure for
PRPH
ECgene alternative splicing isoforms for
PRPH

Expression for PRPH Gene

mRNA expression in normal human tissues for PRPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRPH Gene

This gene is overexpressed in Testis (x8.9) and Colon - Sigmoid (x8.0).

Protein differential expression in normal tissues from HIPED for PRPH Gene

This gene is overexpressed in Spinal cord (33.6) and Colon muscle (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPH Gene



SOURCE GeneReport for Unigene cluster for PRPH Gene Hs.37044

genes like me logo Genes that share expression patterns with PRPH: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PRPH Gene

Orthologs for PRPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRPH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRPH 35
  • 92.57 (n)
  • 96.54 (a)
PRPH 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPH 35
  • 93.43 (n)
  • 97.22 (a)
PRPH 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prph 35
  • 89.61 (n)
  • 95.7 (a)
Prph 16
Prph 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRPH 35
  • 99.93 (n)
  • 100 (a)
PRPH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prph 35
  • 90.72 (n)
  • 96.57 (a)
oppossum
(Monodelphis domestica)
Mammalia PRPH 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPH 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 48 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PRPH 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prph 35
  • 67.33 (n)
  • 72.31 (a)
African clawed frog
(Xenopus laevis)
Amphibia plasticin-prov 35
zebrafish
(Danio rerio)
Actinopterygii plasticin 35
prph 35
  • 67.15 (n)
  • 64.99 (a)
prph 36
  • 64 (a)
OneToOne
Species with no ortholog for PRPH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRPH Gene

ENSEMBL:
Gene Tree for PRPH (if available)
TreeFam:
Gene Tree for PRPH (if available)

Paralogs for PRPH Gene

Paralogs for PRPH Gene

genes like me logo Genes that share paralogs with PRPH: view

Variants for PRPH Gene

Structural Variations from Database of Genomic Variants (DGV) for PRPH Gene

Variant ID Type Subtype PubMed ID
esv25113 CNV Gain 19812545
nsv826367 CNV Gain 20364138

Variation tolerance for PRPH Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPH Gene

Human Gene Mutation Database (HGMD)
PRPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for PRPH Gene

Disorders for PRPH Gene

MalaCards: The human disease database

(7) MalaCards diseases for PRPH Gene - From: OMIM, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
macular dystrophy, patterned, 1
  • patterned dystrophy of retinal pigment epithelium
choriodal dystrophy, central areolar 2
  • choroidal dystrophy, central areolar 2
macular dystrophy, vitelliform, 3
  • adult-onset vitelliform macular dystrophy
retinitis pigmentosa 7 and digenic
  • leber congenital amaurosis 18
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search PRPH in MalaCards View complete list of genes associated with diseases

Relevant External Links for PRPH

Genetic Association Database (GAD)
PRPH
Human Genome Epidemiology (HuGE) Navigator
PRPH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPH
genes like me logo Genes that share disorders with PRPH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRPH Gene

Publications for PRPH Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. Chromosomal localisation of the mouse and human peripherin genes. (PMID: 1378416) Moncla A. … Portier M.M. (Genet. Res. 1992) 2 3
  3. FBXW7 modulates cellular stress response and metastatic potential through a88HSF1 post-translational modification. (PMID: 25720964) Kourtis N. … Aifantis I. (Nat. Cell Biol. 2015) 3
  4. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner B.L. … Wichterle H. (PLoS ONE 2015) 3
  5. Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin. (PMID: 23179371) Cogli L. … Bucci C. (Acta Neuropathol. 2013) 3

Products for PRPH Gene

Sources for PRPH Gene

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